Results for the protein: NP

Results for the Protein: NP_000393

109389365

2539

G6PD

NCBI

glucose-6-phosphate 1-dehydrogenase isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  ANEMIA, NONSEPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
  ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
  G6PD A+
  G6PD A-
  G6PD AGRIGENTO;;
  G6PD ALHAMBRA
  G6PD ANAHEIM;;
  G6PD ANANT;;
  G6PD ANDALUS
  G6PD ASAHI
  G6PD AURES
  G6PD AVEIRO
  G6PD BEVERLY HILLS
  G6PD CAGLIARI
  G6PD CANTON
  G6PD CHATHAM
  G6PD COIMBRA
  G6PD COSENZA
  G6PD DHON;;
  G6PD GAOHE
  G6PD GASTONIA
  G6PD GIFU;;
  G6PD GUADALAJARA
  G6PD HARILAOU
  G6PD IERAPETRA
  G6PD ILESHA
  G6PD IOWA
  G6PD IOWA CITY;;
  G6PD JAMMU
  G6PD JAPAN
  G6PD KAIPING
  G6PD KALYAN
  G6PD KERALA-KALYAN
  G6PD KERALA;;
  G6PD LOMA LINDA
  G6PD MAHIDOL
  G6PD MAHIDOL-LIKE
  G6PD MALAGA
  G6PD MARION;;
  G6PD MEDITERRANEAN
  G6PD METAPONTO
  G6PD MEXICO CITY
  G6PD MINNESOTA;;
  G6PD MODENA
  G6PD MONTALBANO
  G6PD NAMORU
  G6PD NANKANG
  G6PD NASHVILLE
  G6PD NEAPOLIS
  G6PD NILGIRI
  G6PD ORISSA
  G6PD PAWNEE
  G6PD PETRICH-LIKE;;
  G6PD PUERTO LIMON
  G6PD QUING YUAN
  G6PD REHOVOT
  G6PD RIVERSIDE
  G6PD SANTIAGO
  G6PD SANTIAGO DE CUBA
  G6PD SAPPORO-LIKE
  G6PD SASSARI;;
  G6PD SEATTLE-LIKE
  G6PD SERRES
  G6PD SPLIT
  G6PD SPRINGFIELD;;
  G6PD TAIWAN-HAKKA
  G6PD TAIWAN-HAKKA 2
  G6PD TOMAH
  G6PD VIANGCHAN
  G6PD WALTER REED

50

2

50

2

0

Tips:

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Default View: Zwf - COG0364 G6PD_N - pfam00479 G6PD_C - pfam02781	RefSeq Protein: NP_000393 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
G6PD_N	pfam00479	9.5e-98	65	240
G6PD_C	pfam02781	1.3e-217	242	536

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1050829	Polymorphism	p.ASN156ASP	N/A
dbSNP	rs1050828	Polymorphism	p.VAL98MET	N/A
OMIM	305900.0047	Disease	p.ALA44GLY	G6PD ORISSA
OMIM	305900.0003	Disease	p.ALA335THR	G6PD CHATHAM
OMIM	305900.0051	Disease	p.ALA361VAL	G6PD SERRES\|\|ANEMIA, NONSEPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0031	Disease	p.ARG198CYS	G6PD COIMBRA
OMIM	305900.0037	Disease	p.ARG387CYS	G6PD GUADALAJARA\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0035	Disease	p.ARG227GLN	G6PD MEXICO CITY
OMIM	305900.0062	Disease	p.ARG198HIS	G6PD NILGIRI
OMIM	305900.0016	Disease	p.ARG285HIS	G6PD MONTALBANO
OMIM	305900.0013	Disease	p.ARG387HIS	G6PD BEVERLY HILLS
OMIM	305900.0008 305900.0025	Disease	p.ARG393HIS	G6PD NASHVILLE\|\|G6PD ANAHEIM;;\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0020	Disease	p.ARG454HIS	G6PD ANDALUS
OMIM	305900.0029	Disease	p.ARG463HIS	G6PD KAIPING\|\|G6PD ANANT;;\|\|G6PD DHON;;\|\|G6PD PETRICH-LIKE;;\|\|G6PD SAPPORO-LIKE
OMIM	305900.0027	Disease	p.ARG227LEU	G6PD A-
OMIM	305900.0021	Disease	p.ARG459LEU	G6PD CANTON\|\|G6PD GIFU;;\|\|G6PD AGRIGENTO;;\|\|G6PD TAIWAN-HAKKA
OMIM	305900.0034	Disease	p.ARG198PRO	G6PD SANTIAGO\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0040	Disease	p.ARG439PRO	G6PD PAWNEE\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0059	Disease	p.ARG459PRO	G6PD COSENZA
OMIM	305900.0001	Disease	p.ASN126ASP	G6PD A+
OMIM	305900.0033	Disease	p.ASN165ASP	G6PD TAIWAN-HAKKA 2
OMIM	305900.0030	Disease	p.ASN363LYS	G6PD LOMA LINDA\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0007	Disease	p.ASP58ASN	G6PD METAPONTO
OMIM	305900.0010	Disease	p.ASP282HIS	G6PD SEATTLE-LIKE\|\|G6PD MODENA
OMIM	305900.0049	Disease	p.ASP181VAL	G6PD MALAGA
OMIM	305900.0014	Disease	p.CYS385ARG	G6PD TOMAH
OMIM	305900.0053	Disease	p.CYS269TYR	G6PD AVEIRO\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0004	Disease	p.GLU156LYS	G6PD ILESHA
OMIM	305900.0042	Disease	p.GLU317LYS	G6PD KERALA-KALYAN\|\|G6PD KERALA;;\|\|G6PD KALYAN
OMIM	305900.0022	Disease	p.GLU398LYS	G6PD PUERTO LIMON\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0009	Disease	p.GLY447ARG	G6PD SANTIAGO DE CUBA\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0039	Disease	p.GLY410ASP	G6PD JAPAN\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0015	Disease	p.GLY410CYS	G6PD RIVERSIDE
OMIM	305900.0005	Disease	p.GLY163SER	G6PD MAHIDOL
OMIM	305900.0045	Disease	p.GLY131VAL	G6PD QUING YUAN
OMIM	305900.0044	Disease	p.HIS32ARG	G6PD GAOHE
OMIM	305900.0061	Disease	p.HIS70TYR	G6PD NAMORU
OMIM	305900.0043	Disease	p.ILE48THR	G6PD AURES
OMIM	305900.0046	Disease	p.LEU342PHE	G6PD MAHIDOL-LIKE
OMIM	305900.0028	Disease	p.LEU323PRO	G6PD A-
OMIM	305900.0012	Disease	p.LYS386GLU	G6PD IOWA\|\|G6PD IOWA CITY;;\|\|G6PD SPRINGFIELD;;\|\|G6PD WALTER REED
OMIM	305900.0048	Disease	p.PHE173LEU	G6PD NANKANG
OMIM	305900.0011	Disease	p.PHE216LEU	G6PD HARILAOU
OMIM	305900.0050	Disease	p.PRO467ARG	G6PD NEAPOLIS
OMIM	305900.0060	Disease	p.PRO481ARG	G6PD SPLIT
OMIM	305900.0036	Disease	p.PRO353SER	G6PD IERAPETRA
OMIM	305900.0006	Disease	p.SER188PHE	G6PD MEDITERRANEAN\|\|G6PD SASSARI;;\|\|G6PD CAGLIARI
OMIM	305900.0055	Disease	p.TYR322HIS	G6PD REHOVOT\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0024	Disease	p.VAL213LEU	G6PD GASTONIA\|\|G6PD MARION;;\|\|G6PD MINNESOTA;;\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0038	Disease	p.VAL394LEU	G6PD ALHAMBRA\|\|ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	305900.0026	Disease	p.VAL291MET	G6PD VIANGCHAN\|\|G6PD JAMMU
OMIM	305900.0054	Disease	p.VAL68MET	G6PD ASAHI

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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